Global Patient Registry of Inherited Retinal Diseases

NCT05957276 | Active Not Recruiting

• 2 other identifiers: CR109326NOPRODRPG0002
• Study Type: observational
• Target: 889
• Locations: 17 countries
• Sites: 72

Brief Summary

The purpose of this study is to better understand the natural history of Inherited Retinal Disease (IRD) and help inform patient management.

Conditions

Inherited Retinal Diseases

Outcome Measures

Primary Outcomes (2)

• Visual Acuity (VA)

  VA is a measure of the sharpness of vision. The test uses a chart with letters or symbols of different sizes, at a specific distance, and is reported using various scales, such as fraction, decimal, minimum angle of resolution (MAR), logMAR. When a participant is unable to read a chart, visual acuity can be measured by counting fingers, hand motion, or light perception.

  Baseline up to 8 years

• Visual Field (VF)

  VF is used to determine scope of vision, including central and peripheral vision. It can determine place, size, and shape of scotoma in vision.

  Baseline up to 8 years

Secondary Outcomes (25)

• Association Between Inherited Retinal Disease (IRD) Genotype and Visual Acuity

  Baseline up to 8 years

• Association Between IRD Genotype and Visual Field

  Baseline up to 8 years

• Association Between IRD Genotype and Change in Visual Acuity

  Baseline up to 8 years

• Association Between IRD Genotype and Change in Visual Field

  Baseline up to 8 years

• Family History and Inheritance Pattern

  Baseline up to 8 years

Study Arms (1)

Participants With Inherited Retinal Diseases (IRDs)

Adult and pediatric (greater than or equal to \[\>=\] 3 years) participants with a documented genetic diagnosis of X-linked retinitis pigmentosa (XLRP) or Achromatopsia (ACHM) and any signs or symptoms of IRD or documented retinal changes detected by imaging or electrophysiology.

Other: Standard of Care

Interventions

Standard of Care OTHER

Participants will not receive any intervention in this study. Participants will receive standard of care therapy.

Participants With Inherited Retinal Diseases (IRDs)

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study population includes adult and pediatric participants with a documented genetic diagnosis of XLRP or ACHM and any signs or symptoms of disease.

You may qualify if:

• For Participant Selection:
• Participant has any clinically documented sign(s) and/or symptom(s) consistent with an Inherited Retinal Disease (IRD), or asymptomatic with documented retinal changes detected by imaging or electrophysiology
• Participant has documented genetic variant(s) (known pathogenic, likely pathogenic, or variants of uncertain significance) in relevant genes for any of the following IRDs: X-Linked Retinitis Pigmentosa (XLRP) and/or Achromatopsia (ACHM)
• Participant or legally acceptable representative has provided informed consent (and participant assent, when applicable) in accordance with local requirements
• Participant is able to have relevant visual and/or retinal assessments performed
• For Caregiver Selection:
• Caregiver has consent from the associated participant to participate in the study, or participant assent and consent from their legally acceptable representative
• Male or female aged greater than or equal to (\>=)18 years
• Identified by an enrolled participant (or their legally acceptable representative\*) as a primary caregiver
• Caregiver has provided informed consent in accordance with local requirements

You may not qualify if:

• For Participant Selection:
• \- Participant has received a treatment in an IRD-related interventional trial, or is being screened for an IRD-related interventional trial
• For Caregiver Selection:
• \- Caregiver has an IRD diagnosis and presents with symptoms (visual impairment)

Sponsors & Collaborators

• Janssen Research & Development, LLC: lead

Study Sites (75)

University of Alabama Birmingham

Birmingham, Alabama, 35294, United States

Location

University of Arkansas for Medical Sciences

Little Rock, Arkansas, 72205, United States

Location

University of Southern California

Los Angeles, California, 90033, United States

Location

UCSF

San Francisco, California, 94143, United States

Location

Bascom Palmer Eye Institute

Miami, Florida, 33136, United States

Location

Emory University

Atlanta, Georgia, 30322, United States

Location

University of Iowa

Iowa City, Iowa, 52242, United States

Location

Ochsner Medical Center

New Orleans, Louisiana, 70121, United States

Location

John Hopkins Hospital

Baltimore, Maryland, 212051832, United States

Location

Univ of Michigan Medical Center

Ann Arbor, Michigan, 48105, United States

Location

University Of Minnesota Medical Center

Minneapolis, Minnesota, 55455, United States

Location

University of Rochester Medical Center

Rochester, New York, 14642, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Oregon Health And Science University

Portland, Oregon, 97239, United States

Location

UPMC

Pittsburgh, Pennsylvania, 15213, United States

Location

Retina Consultants of Texas

Bellaire, Texas, 77401, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

University of Texas Houston

Houston, Texas, 77204, United States

Location

Centre for Eye Research Australia

East Melbourne, 3002, Australia

Location

Lions Eye Institute

Nedlands, 6009, Australia

Location

Sydney Children's Hospital

Westmead, 2145, Australia

Location

Kepler Universitatsklinikum GmbH

Linz, 4021, Austria

Location

Medizinische Universitaet Wien

Vienna, A-1090, Austria

Location

Ghent University Hospital

Ghent, 9000, Belgium

Location

INRET Clínica e Centro de Pesquisa

Belo Horizonte, 30150-270, Brazil

Location

On Oftalmologia LTDA

Pinheiros, 05406-900, Brazil

Location

Clinica Oftalmologica Sao Lucas

São Paulo, 01427-002, Brazil

Location

Instituto De Genetica Ocular

São Paulo, 04023-061, Brazil

Location

Sunnybrook Health Sciences Center

Toronto, Ontario, M4N 3M5, Canada

Location

Beijing Children's Hospital, Capital Medical University

Beijing, 100045, China

Location

Beijing Tongren Hospital CMU

Beijing, 100730, China

Location

Peking Union Medical College Hospital

Beijing, 100730, China

Location

Sun YatSen University, Zhongshan Ophthalmic Center

Guangzhou, 510060, China

Location

Eye and ENT Hospital of Fudan University 1

Shanghai, 200031, China

Location

Shanghai General Hospital

Shanghai, 200080, China

Location

Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Shanghai, 200092, China

Location

Shanghai Aier Eye Hospital

Shanghai, 200336, China

Location

Rigshospitalet Glostrup

Glostrup Municipality, 2600, Denmark

Location

Helsingin Yliopistollinen Keskussairaala

Helsinki, 00100, Finland

Location

CHU Montpellier

Montpellier, 34295, France

Location

CHU Nantes

Nantes, F44093, France

Location

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Paris, 75012, France

Location

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

Hopitaux universitaires de Strasbourg

Srasbourg, 67091, France

Location

Universitatsklinikum Bonn

Bonn, 53127, Germany

Location

The Chaim Sheba Medical Center

Ramat Gan, 52621, Israel

Location

Tel Aviv Sourasky Medical Center

Tel Aviv, 6423906, Israel

Location

Arcispedale S. Anna Ferrara

Ferrara, 44124, Italy

Location

Azienda Ospedaliero Universitaria Careggi

Florence, 50134, Italy

Location

Ospedale San Raffaele

Milan, 20132, Italy

Location

ASST Santi Paolo e Carlo

Milan, 20142, Italy

Location

Azienda Ospedaliera Univ.- Università Degli studi della Campania - Luigi Vanvitelli

Naples, 80131, Italy

Location

Policlinico Universitario Agostino Gemelli

Roma, 00168, Italy

Location

IRCCS Fondazione G.B. Bietti per lo Studio e la Ricerca in Oftalmologia ONLUS

Roma, 00198, Italy

Location

Kyushu University Hospital

Fukuoka, 812-8582, Japan

Location

National Hospital Organization Tokyo Medical Center

Meguro-ku, 152 8902, Japan

Location

Nagoya University Hospital

Nagoya, 466-8560, Japan

Location

Mie University Hospital

Tsu, 514 8507, Japan

Location

Seoul National University Bundang Hospital

Gyeonggi-do, 13620, South Korea

Location

Severance Hospital

Seoul, 03722, South Korea

Location

Samsung Medical Center

Seoul, 06351, South Korea

Location

Hosp. Univ. de Bellvitge

Barcelona, 08907, Spain

Location

Hosp. Sant Joan de Deu

Barcelona, 08950, Spain

Location

Hosp. Univ. Donostia

Donostia / San Sebastian, 20014, Spain

Location

Hosp Univ Fund Jimenez Diaz

Madrid, 28040, Spain

Location

Hosp. Univ. 12 de Octubre

Madrid, 28041, Spain

Location

Hosp. Virgen Macarena

Seville, 41009, Spain

Location

University Hospital Basel, Eye Clinic/Institute of Molecular and Clinical

Basel, 4031, Switzerland

Location

Universite de Lausanne, Hopital ophtalmique Jules-Gonin

Lausanne, 1004, Switzerland

Location

University Hospital Wales

Cardiff, CF244LU, United Kingdom

Location

Hull University Teaching Hospitals NHS Trust

Hull, HU32JZ, United Kingdom

Location

Leeds Teaching Hospitals NHS Trust

Leeds, LS9 7TF, United Kingdom

Location

Royal Liverpool University Hospital

Liverpool, L7 8XP, United Kingdom

Location

University Hospital Southampton NHS Foundation Trust

Southampton, SO166YD, United Kingdom

Location

Sunderland Eye Infirmary

Sunderland, SR29HP, United Kingdom

Location

MeSH Terms

Interventions

Standard of Care

Intervention Hierarchy (Ancestors)

Quality Indicators, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation

Study Officials

• Janssen Research & Development, LLC Clinical Trial

  Janssen Research & Development, LLC

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2023
• First Posted: July 24, 2023
• Study Start: August 31, 2023
• Primary Completion (Estimated): July 3, 2026
• Study Completion (Estimated): July 3, 2026
• Last Updated: June 5, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

BR (4); IL (2); FI (1); IT (7); CA (1); DE (1); US (18); CN (8); BE (1); FR (5); GB (6); JP (4); DK (1); KR (3); ES (6); CH (2); AU (2)